Erratum: Hum Genet (1998) 102 : 464–466

  title={Erratum: Hum Genet (1998) 102 : 464–466},
  author={Rein P. Stulp and Edwin Verlind and gez. Mantel and Yu. N. Averyanov and Robert M. W. Hofstra},
  journal={Human Genetics},
is described incorrectly. The correct description is a T to A transition at nucleotide 530, leading to an isoleucine to asparagine substitution at codon 177. This changes an uncharged polar amino acid residue for a nonpolar amino acid residue. In Fig. 1 the mutation in family 2 (family 3 in the text) should be indicated as I 177Ν. The sequence as shown is… CONTINUE READING